A Case of Leprechaunism With Severe Hyperinsulinemia

From the Department of Pediatrics (Drs Rosenberg, Haworth, Degroot, and Trevenen), University of Manitoba, Winnipeg, Manitoba, Canada; and the Laboratory of Biochemical Pharmacology (Dr Rechler), National Institute of Arthritis, Metabolism, and Digestive Diseases, National Institutes of Health, Bethesda, Md.

• This report describes an infant with physical features typical of leprechaunism, including a characteristic facies, hirsutism, and decreased subcutaneous tissue and muscle mass. Intermittent hypoglycemia and severe hyperinsulinemia were documented. The patient's insulin was normal in molecular size and biological activity, but its binding to the patient's cultured fibroblasts was profoundly decreased. Insulin antibodies were not present. A literature review has been undertaken to clarify further the clinical, metabolic, and pathological characteristics of this condition.